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Leigh's disease involving multiple organs

K C Jung1, N H Myong, J G Chi

  • 1Department of Pathology, Seoul National University College of Medicine.

Journal of Korean Medical Science
|June 1, 1993
PubMed
Summary
This summary is machine-generated.

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Leigh's disease, a rare neurological disorder, involves brain, liver, kidney, and muscle abnormalities. Autopsy revealed mitochondrial dysfunction and cellular damage across multiple organs in an infant.

Area of Science:

  • Neuropathology
  • Mitochondrial disease research
  • Pediatric neurology

Background:

  • Leigh's disease is a rare, progressive neurodegenerative disorder.
  • Characterized by spongy necrosis in the brain and mitochondrial abnormalities.
  • Often presents in infancy or early childhood.

Observation:

  • An autopsy case of Leigh's disease in an 18-month-old girl with cerebral palsy.
  • Clinical presentation included hypertonia and mental retardation.
  • Death due to severe metabolic acidosis.

Findings:

  • Postmortem examination revealed growth retardation, fatty liver, fatty kidney, and brain abnormalities.
  • Histopathology showed focal softenings, increased capillaries, vacuolar degeneration, and gliosis in the brain.

Related Experiment Videos

  • Electron microscopy confirmed increased, abnormal mitochondria in brain, liver, and kidney cells, with electron-dense inclusions.

    • Implications:

    • This case highlights Leigh's disease's systemic impact beyond the central nervous system.
    • Demonstrates characteristic mitochondrial pathology in multiple organs.
    • Contributes to understanding the spectrum of Leigh's disease pathology.